Genotype-Phenotype Correlation of SMN1 and NAIP Deletions in Korean Patients with Spinal Muscular Atrophy

BACKGROUND AND PURPOSE: Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disease characterized by progressive muscle weakness and atrophy. Most SMA patients have a homozygous deletion in survival of motor neuron 1 (SMN1) gene, and neuronal apoptosis inhibitory protein (NAIP) gen...

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Publicat a:J Clin Neurol
Autors principals: Ahn, Eun-Ji, Yum, Mi-Sun, Kim, Eun-Hee, Yoo, Han-Wook, Lee, Beom Hee, Kim, Gu-Hwan, Ko, Tae-Sung
Format: Artigo
Idioma:Inglês
Publicat: Korean Neurological Association 2017
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Original Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC5242148/
https://ncbi.nlm.nih.gov/pubmed/27730768
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3988/jcn.2017.13.1.27
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